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Citation:
Gaillard F, Worsley C, TERT promoter mutations. Reference article, Radiopaedia.org (Accessed on 28 Mar 2025) https://doi.org/10.53347/rID-52458
TERT promoter mutations affect the TERT promoter (located on the short arm of chromosome 5) which encodes for the hTERT component of telomerase, an enzyme that maintains and lengthens telomeres 1. Mutations that result in enhanced activity of telomerase, and therefore longer telomeres, can be is seen in over 50 different cancers throughout the body, including oligodendroglioma, follicular carcinomas of the thyroid, malignant melanoma, bladder transitional cell carcinoma, and hepatocellular carcinoma 2,3,5.
In the 5th Edition of the WHO classification of CNS tumors (2021), TERT promoter mutation was included as one of a range of molecular criteria for the diagnosis of glioblastoma, IDH-wildtype 6.
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1. NIH Gene TERT Gene. Accessed April 8, 2017.
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2. Vinagre J, Almeida A, Pópulo H et al. Frequency of TERT Promoter Mutations in Human Cancers. Nat Commun. 2013;4(1):2185. doi:10.1038/ncomms3185 - Pubmed
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3. Bell R, Rube H, Xavier-Magalhães A et al. Understanding TERT Promoter Mutations: A Common Path to Immortality. Mol Cancer Res. 2016;14(4):315-23. doi:10.1158/1541-7786.MCR-16-0003 - Pubmed
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4. NIH Gene TERT Gene. Accessed April 8, 2017.
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5. Cahill D, Louis D, Cairncross J. Molecular Background of Oligodendroglioma: 1p/19q, IDH, TERT, CIC and FUBP1. CNS Oncology. 2015;4(5):287-94. doi:10.2217/cns.15.32 - Pubmed
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6. Louis D, Ohgaki H, Wiestler O et al. The 2007 WHO Classification of Tumours of the Central Nervous System. Acta Neuropathol. 2007;114(2):97-109. doi:10.1007/s00401-007-0243-4 - Pubmed
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